Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

BACKGROUND: Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human deve...

詳細記述

保存先:
書誌詳細
出版年:Genome Biol
主要な著者: Shamseldin, Hanan E., Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K., Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4491988/
https://ncbi.nlm.nih.gov/pubmed/26036949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-015-0681-6
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